Y34F (p.Tyr34Phe) variant of WWOX (Q9NZC7)
Y34F (p.Tyr34Phe) in WWOX (Q9NZC7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y34F (p.Tyr34Phe) variant details
- p.Tyr34Phe
- ExAC rs766309882
- gnomAD rs766309882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 25.20
- PolyPhen-2 0.58
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available